Inherited protein S deficiency: from genotype to phenotype

Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.

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RFC1 expansions are a common cause of idiopathic sensory neuropathy.

Brain : a journal of neurology·2021

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Research and practice in thrombosis and haemostasis·2018

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Haematologica·2016

Transcription factor defects causing platelet disorders.

Blood reviews·2016

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Journal of inherited metabolic disease·2016

Genetic thrombophilia in cancer-associated thrombosis: the fly plowing with the ox or an old player's new role?

Haematologica·2026

From prognostic discrimination to clinical utility in high-risk myeloma. Comment on: "Risk factors and their contributions to prognosis in multiple myeloma".

Haematologica·2026

Learning from relapse: how MajesTEC-1 immune profiling points the way to next-generation bispecific strategies.

Haematologica·2026

Making remissions last: the promise of maintenance in primary central nervous system lymphoma.

Haematologica·2026

Venetoclax combined with high-dose cytarabine and mitoxantrone for relapsed or refractory acute myeloid leukemia: outcomes and risk stratification.

Haematologica·2026

The many faces (and phenotypes) of BCR::ABL1-driven acute leukemia.

Haematologica·2026

Divergent complication patterns of type 2 diabetes in African individuals who are lean versus overweight or obese: a multi-cohort analysis.

Diabetologia·2026

Optimizing Nutrition Strategies for Diabetes Management in India: An Expert Opinion.

Diabetes, metabolic syndrome and obesity : targets and therapy·2026

Transcriptomic and genetic evidence highlights EHHADH in a FUNDC1-associated mitochondrial network in diabetic nephropathy.

Metabolism open·2026

Micronutrient Networks in Nutritional Anemia: A Narrative Review Beyond Pathophysiology, Diagnosis, and Management of Iron Deficiency.

Cureus·2026

Sociodemographic and biochemical correlates of self-reported taste dysfunction: an NHANES analysis.

Open medicine (Warsaw, Poland)·2026

Modulating stress responses via the microbiota-gut-brain axis: a pathway-focused review of GABA, 5-HT, and kynurenine metabolites.

Food research international (Ottawa, Ont.)·2026

Related Experiment Videos

Inherited protein S deficiency: from genotype to phenotype

Related Concept Videos

Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.

RFC1 expansions are a common cause of idiopathic sensory neuropathy.

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Transcription factor defects causing platelet disorders.

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Genetic thrombophilia in cancer-associated thrombosis: the fly plowing with the ox or an old player's new role?

From prognostic discrimination to clinical utility in high-risk myeloma. Comment on: "Risk factors and their contributions to prognosis in multiple myeloma".

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Divergent complication patterns of type 2 diabetes in African individuals who are lean versus overweight or obese: a multi-cohort analysis.

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Transcriptomic and genetic evidence highlights EHHADH in a FUNDC1-associated mitochondrial network in diabetic nephropathy.

Micronutrient Networks in Nutritional Anemia: A Narrative Review Beyond Pathophysiology, Diagnosis, and Management of Iron Deficiency.

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Inherited protein S deficiency: from genotype to phenotype

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